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RESEARCH TRIANGLE PARK – A new North Carolina-based biopharmaceutical company with a focus on rare illnesses hopes to be the first to find a treatment for Farber disease.

This extremely rare genetic disorder results in the buildup of a material in the body called ceramide that can inflame and damage many different tissues. Joints, connective tissue, the lungs and central nervous system are often impacted. Patients with Farber disease are profoundly affected and the illness often can lead to death in childhood.


Aceragen, which launched in January 2021, has acquired an investigational therapy – ACG-801 – from Enzyvant, another biotech company with a significant presence in North Carolina. The product was developed from foundational research by Edward Schuchman, Ph.D., a professor at the Icahn School of Medicine at Mount Sinai in New York City.

ACG-801 – recombinant human acid ceramidase – is an enzyme replacement therapy. It addresses the underlying cause of Farber disease, a deficiency of acid ceramidase resulting from genetic mutations in a single gene, called ASAH1. Without acid ceramidase, the body can’t effectively break down ceramide, which then accumulates and causes inflammation.

Aceragen said NovaQuest Capital Management, a Raleigh-based biopharma and life sciences investment firm, will provide $35 million in product financing to help develop the new therapy. Managing Partner Ron Wooten and Vice President Stephen Lesser have joined Aceragen’s board of directors.

From NovaQuest’s perspective, “opportunities like ACG-801 offer an attractive area for investment, combining a significant unmet medical need with a treatment that has the potential to deliver a clinically meaningful benefit and improved quality of life,” Lesser pointed out.

Patient study planned for 2022

Aceragen is planning a clinical study for next year to gauge the safety and effectiveness of ACG-801, according to company President and CEO John Taylor, who co-founded the startup. It hopes to use the results of the study to seek approval to market the therapy in the U.S. and Europe within about three years. The Food and Drug Administration already has granted Orphan Drug, Rare Pediatric Disease and Fast Track designations, which can speed up the approval process.

“Enzyvant conducted a broad search to identify a partner and, we think, correctly selected Aceragen,” Taylor said in a recent interview with the North Carolina Biotechnology Center (NCBiotech). “I knew of Dr. Schuchman’s research when it was still in the lab and was excited about it then. To have the opportunity to acquire it at this advanced stage – with a partner like NovaQuest and the team of experts we have assembled – is an extremely compelling story.” Along with intellectual property and regulatory designations, Aceragen has obtained a wealth of preclinical information, toxicology studies, quantitative patient research and other materials.

“Enzyvant had done quite a lot of work in advancing the product through the regulatory process, including developing a harmonized protocol for the clinical study with both the U.S. Food and Drug Administration and the European Medicines Agency,” Taylor pointed out. “So we have the momentum to get to the clinic with a study that we hope can support registration.”

Potential global market for ACG-801 around 1,000 patients

Based on population data, Taylor estimated that the potential market for ACG-801 could be as many as 1,000 people globally. But he was careful to point out that it will take a number of years to confirm those estimates. Farber disease has a broad spectrum of presentations and is likely under-diagnosed, or misdiagnosed as a more common disease like juvenile idiopathic arthritis.

If the therapy is approved, patients will likely need twice-monthly infusions. Taylor said the product initially will be manufactured by a third-party partner in the U.S.

The technology behind ACG-801 might also be used to treat cystic fibrosis (CF) in the future, according to Taylor. It’s an area where he has extensive experience as the former CEO of Spyryx Biosciences, a spinout from the University of North Carolina at Chapel Hill that was focused on treatments for CF and supported by NCBiotech through its Company Inception Loan program.

“Farber disease is our first priority, but acid ceramidase deficiency is known to be a factor in other serious illnesses like CF and a neurological condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME),” he noted. “We intend to explore those as well.”

A career devoted to solving the puzzles of rare diseases

Taylor has devoted much of his career in the pursuit of therapies to treat rare and orphan diseases (conditions that affect fewer than 200,000 people in the U.S.). And he also has served as a part-time entrepreneur-in-residence at NCBiotech. In that role, he has counseled local startup life sciences companies on how to develop their businesses and raise the funds to support them.

Aceragen and Enzyvant

Aceragen was created with the mission of developing innovative treatments for rare and ultra-rare diseases. The company is based in Raleigh and has an experienced 10-member team. They work remotely from North Carolina and other areas of the U.S. and have a European presence in Basel, Switzerland as well.

Enzyvant, which began the development of ACG-801 (originally identified as RVT-801), got its start in 2016 in Durham – also with a focus on rare diseases. It is now headquartered in Cambridge, Massachusetts and is part of Sumitovant Biopharma, a subsidiary of Japan’s Sumitomo Dainippon Pharma.

(C) N.C. Biotechnology Center